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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC37A4
Single nucleotide variant
(5 prime UTR variant +1 more)
Glycogen storage disease, type I
GUncertain significance
LOC130006883, SLC37A4
Single nucleotide variant
(5 prime UTR variant +1 more)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(5 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease, type I
+1 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(intron variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
(I19V +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+1 more
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
+1 more
GConflicting classifications of pathogenicity
SLC37A4
(E130D +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+1 more
GUncertain significance
SLC37A4
(S172F +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIw
+4 more
GUncertain significance
SLC37A4
(R126Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SLC37A4
Single nucleotide variant
(5 prime UTR variant)
Glycogen storage disease, type I
+1 more
GConflicting classifications of pathogenicity
G6PC1
Deletion
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
G6PC1
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
G6PC1
Microsatellite
(3 prime UTR variant)
Glycogen storage disease, type I
GBenign
G6PC1
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
G6PC1
Duplication
(3 prime UTR variant)
Glycogen storage disease, type I
GBenign
SLC37A4
Single nucleotide variant
Glycogen storage disease, type I
+1 more
GBenign
SLC37A4
Single nucleotide variant
(intron variant)
Glycogen storage disease, type I
+2 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(5 prime UTR variant +1 more)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(5 prime UTR variant +1 more)
Glycogen storage disease, type I
GUncertain significance
LOC130006883, SLC37A4
Single nucleotide variant
(intron variant +1 more)
Glycogen storage disease, type I
+1 more
GBenign
LOC130006883, SLC37A4
Single nucleotide variant
(5 prime UTR variant +1 more)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Deletion
(5 prime UTR variant +1 more)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(5 prime UTR variant +1 more)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(intron variant +1 more)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(intron variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(5 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(5 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(5 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(5 prime UTR variant)
Glycogen storage disease, type I
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
+1 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type I
+4 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
(A409T +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+1 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
+1 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
+1 more
GBenign
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GBenign
G6PC1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC37A4
(A156V +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type I
+4 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(5 prime UTR variant +1 more)
Glycogen storage disease, type I
+1 more
GBenign
SLC37A4
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease, type I
+2 more
GBenign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
+5 more
GBenign/Likely benign
SLC37A4
(N27K)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
+1 more
GConflicting classifications of pathogenicity
G6PC1
(Q27fs)
Deletion
(frameshift variant)
G6PC1-related condition
+3 more
GPathogenic
SLC37A4
(W96* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type I
+1 more
GConflicting classifications of pathogenicity
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